Mutagenetix > Incidental Mutation

Incidental Mutation 'R8793:Nwd1'

671055

Institutional Source

Beutler Lab

Gene Symbol

Nwd1

Ensembl Gene

ENSMUSG00000048148

Gene Name

NACHT and WD repeat domain containing 1

Synonyms

A230063L24Rik

MMRRC Submission

068610-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R8793 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73372865-73443508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73419704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 963 (D963G)

Ref Sequence

ENSEMBL: ENSMUSP00000124804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093427] [ENSMUST00000160443] [ENSMUST00000161254] [ENSMUST00000161557] [ENSMUST00000228312]

AlphaFold

A6H603

Predicted Effect

probably benign
Transcript: ENSMUST00000093427
AA Change: D963G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: D963G

Domain	Start	End	E-Value	Type
low complexity region	45	55	N/A	INTRINSIC
low complexity region	279	292	N/A	INTRINSIC
Pfam:AAA_16	312	457	7.3e-8	PFAM
Pfam:NACHT	336	511	1.3e-12	PFAM
WD40	857	896	1.31e-3	SMART
WD40	899	938	7.97e-8	SMART
Blast:WD40	941	985	2e-15	BLAST
WD40	988	1028	2.05e1	SMART
Blast:WD40	1037	1073	2e-9	BLAST
Blast:WD40	1073	1110	4e-10	BLAST
WD40	1118	1156	5.97e-1	SMART
WD40	1160	1198	6.6e1	SMART
WD40	1245	1283	5.3e1	SMART
WD40	1286	1326	2.13e1	SMART
WD40	1340	1375	1.06e2	SMART
WD40	1377	1416	3.5e-4	SMART
WD40	1421	1461	2.66e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160443

SMART Domains

Protein: ENSMUSP00000124446
Gene: ENSMUSG00000048148

Domain	Start	End	E-Value	Type
low complexity region	45	55	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161254
AA Change: D963G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: D963G

Domain	Start	End	E-Value	Type
low complexity region	45	55	N/A	INTRINSIC
low complexity region	279	292	N/A	INTRINSIC
low complexity region	319	329	N/A	INTRINSIC
Pfam:NACHT	336	511	2.1e-12	PFAM
WD40	857	896	1.31e-3	SMART
WD40	899	938	7.97e-8	SMART
Blast:WD40	941	985	1e-15	BLAST
WD40	988	1028	2.05e1	SMART
Blast:WD40	1037	1073	2e-9	BLAST
Blast:WD40	1073	1110	3e-10	BLAST
WD40	1118	1156	2.49e-1	SMART
WD40	1203	1241	5.3e1	SMART
WD40	1244	1284	2.13e1	SMART
WD40	1298	1333	1.06e2	SMART
WD40	1335	1374	3.5e-4	SMART
WD40	1379	1419	2.66e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161557

SMART Domains

Protein: ENSMUSP00000125470
Gene: ENSMUSG00000048148

Domain	Start	End	E-Value	Type
low complexity region	45	55	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000228312
AA Change: D1004G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (38/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a cytosolic protein and predicted to contain a NACHT domain and multiple WD40 repeats. Increased expression of this gene was observed in some prostate cancer cell lines. Knocking down expression of this gene results in decreased androgen receptor protein levels, indicating that this gene may be important in modulating androgen receptor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	C	3: 59,945,804 (GRCm39)	D158A	probably damaging	Het
Acot7	G	A	4: 152,284,380 (GRCm39)	V17I	probably benign	Het
Akap13	A	G	7: 75,375,076 (GRCm39)	T184A	probably benign	Het
Ankrd31	T	A	13: 96,968,221 (GRCm39)	D619E	probably damaging	Het
Arap3	A	G	18: 38,107,492 (GRCm39)	F1342L	probably benign	Het
Arfgef1	G	C	1: 10,212,832 (GRCm39)	N1696K	possibly damaging	Het
Asap2	A	G	12: 21,218,212 (GRCm39)	D45G	probably damaging	Het
Atp8b4	T	A	2: 126,231,254 (GRCm39)	M456L	probably benign	Het
Bag5	A	T	12: 111,677,355 (GRCm39)	I156N	possibly damaging	Het
Banp	T	A	8: 122,750,743 (GRCm39)	V478E	probably benign	Het
BC024063	A	T	10: 81,945,352 (GRCm39)	H324L	probably benign	Het
Bms1	T	A	6: 118,360,784 (GRCm39)	K1228M	probably damaging	Het
Btaf1	A	G	19: 36,958,429 (GRCm39)	K649E	probably benign	Het
Cpox	C	A	16: 58,493,708 (GRCm39)	P226Q	probably damaging	Het
Cux1	A	G	5: 136,594,539 (GRCm39)	S5P	unknown	Het
Dock2	G	T	11: 34,451,215 (GRCm39)	Q837K	probably benign	Het
Fam171a1	T	C	2: 3,187,535 (GRCm39)	I134T	probably damaging	Het
Gm2832	A	G	14: 41,003,726 (GRCm39)	T186A		Het
Gm8246	T	C	14: 16,984,554 (GRCm39)	E93G	probably damaging	Het
Grid2ip	C	T	5: 143,363,396 (GRCm39)	T463M	probably damaging	Het
Mael	G	A	1: 166,029,257 (GRCm39)	R389C	probably benign	Het
Myo9a	C	A	9: 59,791,850 (GRCm39)	Q1818K	probably benign	Het
Or13c3	A	G	4: 52,856,490 (GRCm39)	F8L	probably benign	Het
Or2g1	T	C	17: 38,107,255 (GRCm39)	S307P	probably benign	Het
Pappa2	A	T	1: 158,678,731 (GRCm39)	V895E	probably damaging	Het
Pcna	T	C	2: 132,093,193 (GRCm39)	T185A	probably benign	Het
Pip4k2c	A	G	10: 127,042,530 (GRCm39)	F108L	probably damaging	Het
Pole	T	A	5: 110,445,614 (GRCm39)	S497T	probably damaging	Het
Potefam3b	G	A	8: 21,159,053 (GRCm39)	V136I	probably benign	Het
Ppp1r12c	A	G	7: 4,485,887 (GRCm39)	V653A	probably benign	Het
Pramel27	A	G	4: 143,577,627 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,764,284 (GRCm39)	V3072E	probably damaging	Het
Sh3bgr	G	A	16: 96,025,792 (GRCm39)		probably null	Het
Slc27a5	A	C	7: 12,723,296 (GRCm39)	L550R	probably benign	Het
Strip2	C	T	6: 29,956,815 (GRCm39)	P815S	probably benign	Het
Tars3	G	T	7: 65,294,673 (GRCm39)		probably benign	Het
Tle5	T	C	10: 81,397,152 (GRCm39)		probably null	Het
Tmem237	G	T	1: 59,146,613 (GRCm39)	L337M	probably damaging	Het
Ttn	T	C	2: 76,555,506 (GRCm39)	M30500V	probably benign	Het
Ube2u	T	C	4: 100,336,416 (GRCm39)	F13S	probably damaging	Het
Ugcg	A	C	4: 59,207,794 (GRCm39)	K44N	probably benign	Het
Vmn2r39	A	T	7: 9,028,149 (GRCm39)	H407Q	probably damaging	Het

Other mutations in Nwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Nwd1	APN	8	73,397,705 (GRCm39)	missense	probably damaging	0.99
IGL01294:Nwd1	APN	8	73,438,373 (GRCm39)	missense	probably damaging	1.00
IGL01298:Nwd1	APN	8	73,388,959 (GRCm39)	missense	probably benign	0.00
IGL01333:Nwd1	APN	8	73,393,439 (GRCm39)	missense	possibly damaging	0.90
IGL01371:Nwd1	APN	8	73,401,743 (GRCm39)	missense	probably damaging	1.00
IGL02244:Nwd1	APN	8	73,434,210 (GRCm39)	missense	probably damaging	1.00
IGL02579:Nwd1	APN	8	73,434,155 (GRCm39)	missense	probably damaging	1.00
IGL02608:Nwd1	APN	8	73,394,003 (GRCm39)	missense	probably damaging	1.00
IGL02632:Nwd1	APN	8	73,394,082 (GRCm39)	missense	possibly damaging	0.80
IGL02893:Nwd1	APN	8	73,394,129 (GRCm39)	missense	probably damaging	1.00
IGL03010:Nwd1	APN	8	73,414,688 (GRCm39)	splice site	probably benign
R0017:Nwd1	UTSW	8	73,436,053 (GRCm39)	splice site	probably benign
R0066:Nwd1	UTSW	8	73,438,484 (GRCm39)	missense	probably benign	0.27
R0066:Nwd1	UTSW	8	73,438,484 (GRCm39)	missense	probably benign	0.27
R0505:Nwd1	UTSW	8	73,388,965 (GRCm39)	missense	probably damaging	0.96
R0511:Nwd1	UTSW	8	73,408,633 (GRCm39)	missense	probably damaging	1.00
R0612:Nwd1	UTSW	8	73,394,308 (GRCm39)	missense	probably damaging	0.99
R0681:Nwd1	UTSW	8	73,388,965 (GRCm39)	missense	probably damaging	0.96
R0763:Nwd1	UTSW	8	73,397,672 (GRCm39)	missense	probably damaging	1.00
R0905:Nwd1	UTSW	8	73,436,077 (GRCm39)	missense	probably damaging	0.99
R1136:Nwd1	UTSW	8	73,424,397 (GRCm39)	splice site	probably benign
R1483:Nwd1	UTSW	8	73,383,714 (GRCm39)	missense	probably damaging	0.96
R1630:Nwd1	UTSW	8	73,393,657 (GRCm39)	missense	possibly damaging	0.66
R1724:Nwd1	UTSW	8	73,438,248 (GRCm39)	missense	probably damaging	1.00
R1732:Nwd1	UTSW	8	73,393,463 (GRCm39)	missense	possibly damaging	0.96
R1885:Nwd1	UTSW	8	73,431,622 (GRCm39)	missense	probably benign	0.00
R1973:Nwd1	UTSW	8	73,431,590 (GRCm39)	missense	possibly damaging	0.46
R2393:Nwd1	UTSW	8	73,389,055 (GRCm39)	missense	probably benign
R2926:Nwd1	UTSW	8	73,393,640 (GRCm39)	missense	probably damaging	1.00
R3706:Nwd1	UTSW	8	73,393,744 (GRCm39)	missense	possibly damaging	0.66
R3916:Nwd1	UTSW	8	73,394,439 (GRCm39)	nonsense	probably null
R3917:Nwd1	UTSW	8	73,394,439 (GRCm39)	nonsense	probably null
R4153:Nwd1	UTSW	8	73,408,564 (GRCm39)	missense	probably damaging	1.00
R4426:Nwd1	UTSW	8	73,393,423 (GRCm39)	missense	probably damaging	1.00
R4435:Nwd1	UTSW	8	73,414,764 (GRCm39)	missense	possibly damaging	0.46
R4522:Nwd1	UTSW	8	73,397,579 (GRCm39)	missense	probably damaging	1.00
R4622:Nwd1	UTSW	8	73,393,928 (GRCm39)	missense	probably damaging	1.00
R4659:Nwd1	UTSW	8	73,421,949 (GRCm39)	missense	probably benign	0.03
R4694:Nwd1	UTSW	8	73,393,958 (GRCm39)	missense	probably damaging	1.00
R4837:Nwd1	UTSW	8	73,383,759 (GRCm39)	missense	probably damaging	1.00
R4844:Nwd1	UTSW	8	73,393,742 (GRCm39)	missense	probably damaging	1.00
R4906:Nwd1	UTSW	8	73,398,841 (GRCm39)	missense	probably damaging	1.00
R5041:Nwd1	UTSW	8	73,431,683 (GRCm39)	missense	possibly damaging	0.90
R5183:Nwd1	UTSW	8	73,397,714 (GRCm39)	missense	probably benign	0.07
R5416:Nwd1	UTSW	8	73,393,322 (GRCm39)	missense	possibly damaging	0.90
R5553:Nwd1	UTSW	8	73,431,604 (GRCm39)	missense	possibly damaging	0.83
R5670:Nwd1	UTSW	8	73,419,745 (GRCm39)	missense	probably damaging	0.97
R5699:Nwd1	UTSW	8	73,429,602 (GRCm39)	critical splice donor site	probably null
R5722:Nwd1	UTSW	8	73,401,872 (GRCm39)	missense	probably damaging	0.97
R5762:Nwd1	UTSW	8	73,397,542 (GRCm39)	missense	probably damaging	1.00
R5778:Nwd1	UTSW	8	73,419,745 (GRCm39)	missense	probably damaging	0.97
R5992:Nwd1	UTSW	8	73,380,201 (GRCm39)	critical splice donor site	probably null
R6163:Nwd1	UTSW	8	73,388,814 (GRCm39)	missense	probably damaging	0.96
R6164:Nwd1	UTSW	8	73,388,814 (GRCm39)	missense	probably damaging	0.96
R6165:Nwd1	UTSW	8	73,388,814 (GRCm39)	missense	probably damaging	0.96
R6212:Nwd1	UTSW	8	73,421,950 (GRCm39)	missense	possibly damaging	0.95
R6443:Nwd1	UTSW	8	73,388,994 (GRCm39)	missense	possibly damaging	0.58
R6865:Nwd1	UTSW	8	73,383,690 (GRCm39)	missense	possibly damaging	0.63
R6928:Nwd1	UTSW	8	73,408,653 (GRCm39)	missense	probably benign	0.27
R6944:Nwd1	UTSW	8	73,380,162 (GRCm39)	missense	possibly damaging	0.69
R6979:Nwd1	UTSW	8	73,394,288 (GRCm39)	missense	probably damaging	1.00
R7060:Nwd1	UTSW	8	73,393,322 (GRCm39)	missense	probably damaging	1.00
R7102:Nwd1	UTSW	8	73,421,957 (GRCm39)	missense	probably damaging	1.00
R7265:Nwd1	UTSW	8	73,419,556 (GRCm39)	missense	probably benign	0.29
R7343:Nwd1	UTSW	8	73,438,410 (GRCm39)	missense	probably damaging	0.98
R7391:Nwd1	UTSW	8	73,389,046 (GRCm39)	missense	probably damaging	0.99
R7424:Nwd1	UTSW	8	73,401,801 (GRCm39)	missense	possibly damaging	0.86
R7438:Nwd1	UTSW	8	73,434,458 (GRCm39)	missense	probably benign	0.00
R7487:Nwd1	UTSW	8	73,393,266 (GRCm39)	missense	unknown
R7502:Nwd1	UTSW	8	73,434,021 (GRCm39)	missense	probably damaging	0.98
R7883:Nwd1	UTSW	8	73,393,754 (GRCm39)	missense	probably damaging	1.00
R8235:Nwd1	UTSW	8	73,438,314 (GRCm39)	frame shift	probably null
R8282:Nwd1	UTSW	8	73,431,580 (GRCm39)	missense	probably damaging	0.99
R8672:Nwd1	UTSW	8	73,394,007 (GRCm39)	missense	probably damaging	1.00
R8716:Nwd1	UTSW	8	73,388,908 (GRCm39)	missense	probably damaging	1.00
R8755:Nwd1	UTSW	8	73,394,192 (GRCm39)	missense	probably damaging	0.98
R8890:Nwd1	UTSW	8	73,438,484 (GRCm39)	missense	probably benign	0.27
R9072:Nwd1	UTSW	8	73,422,046 (GRCm39)	missense	probably benign	0.00
R9073:Nwd1	UTSW	8	73,422,046 (GRCm39)	missense	probably benign	0.00
R9257:Nwd1	UTSW	8	73,397,566 (GRCm39)	missense	probably damaging	1.00
R9582:Nwd1	UTSW	8	73,421,917 (GRCm39)	missense	probably damaging	1.00
R9665:Nwd1	UTSW	8	73,401,106 (GRCm39)	missense	probably damaging	1.00
X0067:Nwd1	UTSW	8	73,393,884 (GRCm39)	missense	possibly damaging	0.81
Z1176:Nwd1	UTSW	8	73,398,928 (GRCm39)	missense	not run
Z1177:Nwd1	UTSW	8	73,436,087 (GRCm39)	missense	probably damaging	0.99
Z1177:Nwd1	UTSW	8	73,422,015 (GRCm39)	missense	possibly damaging	0.48
Z1177:Nwd1	UTSW	8	73,393,256 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGTGTCCACTGCAGCTGAAG -3'
(R):5'- CTACCTGATGGGATGGACTTG -3'

Sequencing Primer
(F):5'- CAGCTGAAGTGAAGTGTGTGC -3'
(R):5'- CCAAGTGCTGGGATTCTAGC -3'

Posted On

2021-04-30